THE COFFIN-LOWRY SYNDROME - A RARE MALFORMATIVE SYNDROME WITH MENTAL-RETARDATION

被引：0

作者：

MAUCERI, L ^{[1
]}

POLIZZI, A ^{[1
]}

RIZZO, R ^{[1
]}

GRECO, F ^{[1
]}

SORGE, G ^{[1
]}

机构：

[1] UNIV CATANIA,PEDIAT CLIN,CATANIA,ITALY

来源：

RIVISTA ITALIANA DI PEDIATRIA-ITALIAN JOURNAL OF PEDIATRICS | 1995年 / 21卷 / 03期

关键词：

COFFIN-LOWRY SYNDROME; MENTAL RETARDATION; FACIAL CHANGES; HANDS ANOMALIES;

D O I：

暂无

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

The Coffin-Lowry syndrome is a rare, well established clinical entity characterized by severe mental retardation in association with peculiar dysmorphic facial features and hand anomalies. The inheritance is X-linked with locus mapping to Xp22. We report a 8-year-old male infant with the Coffin-Lowry syndrome, in which a reduction of T-suppressor was found.

引用

页码：304 / 308

页数：5